A Case of Chondrodysplasia Punctata / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 1779-1783, 2004.
Artículo
en Coreano
| WPRIM
| ID: wpr-199601
ABSTRACT
Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage. Chondrodysplasia Punctata includes two different disorders a rhizomelic, potentially lethal variety and a nonrhizomelic variety (Conradi-Hunermann syndrome) which is more common and generally benign. These two conditions have different clinical, genetic, and radiographic characteristics. We experienced a case of rhizomelic Chondrodysplasia Punctata (RCDP) in a fetus of intrauterine pregnancy at 19 weeks who was terminated because of ultrasonographic demonstration of gross skeletal and midfacial anomaly. Thus, we report a case with brief review of the literature.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cartílago
/
Condrodisplasia Punctata
/
Condrodisplasia Punctata Rizomélica
/
Feto
/
Enfermedades y Anomalías Neonatales Congénitas y Hereditarias
Límite:
Humanos
/
Lactante
/
Embarazo
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Año:
2004
Tipo del documento:
Artículo
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